Canonical Allele Identifier: CA155252

Gene: SLC29A3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71362156A>G , CM000672.2:g.71362156A>G	GRCh38
NC_000010.10:g.73121913A>G , CM000672.1:g.73121913A>G	GRCh37
NC_000010.9:g.72791919A>G	NCBI36
NG_017066.1:g.47904A>G
NG_017066.2:g.47898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697843.1:n.2452A>G
ENST00000373189.6:c.976A>G MANE Select	ENSP00000362285.5:p.Ile326Val
ENST00000479577.2:c.742A>G	ENSP00000493995.1:p.Ile248Val
ENST00000642198.1:c.*548A>G	ENSP00000494827.1:n.*548A>G
ENST00000642772.1:c.*94+5913A>G	ENSP00000495041.1:n.*94+5913A>G
ENST00000643042.1:c.597A>G	ENSP00000496674.1:n.597A>G
ENST00000643619.1:c.*559A>G	ENSP00000494378.1:n.*559A>G
ENST00000643752.1:c.*302A>G	ENSP00000495000.1:n.*302A>G
ENST00000644088.1:c.*297A>G	ENSP00000494066.1:n.*297A>G
ENST00000644591.1:c.*302A>G	ENSP00000496664.1:n.*302A>G
ENST00000644895.1:c.*99+5913A>G	ENSP00000493872.1:n.*99+5913A>G
ENST00000645345.1:c.*548A>G	ENSP00000495859.1:n.*548A>G
ENST00000647524.1:c.*559A>G	ENSP00000495077.1:n.*559A>G
ENST00000373189.5:c.976A>G	ENSP00000362285.5:p.Ile326Val
ENST00000469204.1:n.473A>G
NM_001174098.1:c.*205A>G	NP_001167569.1:n.*205A>G
NM_018344.5:c.976A>G	NP_060814.4:p.Ile326Val
NR_033413.1:n.950A>G
NR_033414.1:n.723A>G
XM_006717910.2:c.742A>G	XP_006717973.1:p.Ile248Val
NM_001363518.1:c.742A>G	NP_001350447.1:p.Ile248Val
XM_017016377.2:c.538A>G	XP_016871866.1:p.Ile180Val
XM_017016378.2:c.358A>G	XP_016871867.1:p.Ile120Val
NM_018344.6:c.976A>G MANE Select	NP_060814.4:p.Ile326Val
NM_001174098.2:c.*205A>G	NP_001167569.1:n.*205A>G
NM_001363518.2:c.742A>G	NP_001350447.1:p.Ile248Val
NR_033413.2:n.944A>G
NR_033414.2:n.717A>G